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rs121913281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913281(C;T)
Make rs121913281(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position179234296
GenePIK3CA
is asnp
is mentioned by
dbSNPrs121913281
dbSNP (old)rs121913281
ClinGenrs121913281
ebirs121913281
HLIrs121913281
Exacrs121913281
Gnomadrs121913281
Varsomers121913281
Maprs121913281
PheGenIrs121913281
Biobankrs121913281
1000 genomesrs121913281
hgdprs121913281
ensemblrs121913281
gopubmedrs121913281
geneviewrs121913281
scholarrs121913281
googlers121913281
pharmgkbrs121913281
gwascentralrs121913281
openSNPrs121913281
23andMers121913281
23andMe allrs121913281
SNP Nexus

SNPshotrs121913281
SNPdbers121913281
MSV3drs121913281
GWAS Ctlgrs121913281
Max Magnitude0
ClinVar
Risk rs121913281(T;T)
Alt rs121913281(T;T)
Reference Rs121913281(C;C)
Significance Pathogenic
Disease Megalencephaly cutis marmorata telangiectatica congenita Non-small cell lung cancer Medulloblastoma Hepatocellular carcinoma Malignant tumor of floor of mouth Adenocarcinoma of prostate Malignant neoplasm of body of uterus Neoplasm of brain Adenocarcinoma of stomach Squamous cell carcinoma of lung Malignant melanoma of skin Glioblastoma Oesophageal carcinoma Adenocarcinoma of lung Uterine Carcinosarcoma Uterine cervical neoplasms Transitional cell carcinoma of the bladder Brainstem glioma Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of breast Pancreatic adenocarcinoma Colorectal Neoplasms Renal cell carcinoma Adrenocortical carcinoma
Variation info
Gene PIK3CA
CLNDBN Megalencephaly cutis marmorata telangiectatica congenita Non-small cell lung cancer Medulloblastoma Hepatocellular carcinoma Malignant tumor of floor of mouth Adenocarcinoma of prostate Malignant neoplasm of body of uterus Neoplasm of brain Adenocarcinoma of stomach Squamous cell carcinoma of lung Malignant melanoma of skin Glioblastoma Oesophageal carcinoma Adenocarcinoma of lung Uterine Carcinosarcoma Uterine cervical neoplasms Transitional cell carcinoma of the bladder Brainstem glioma Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of breast Pancreatic adenocarcinoma Colorectal Neoplasms Renal cell carcinoma Adrenocortical carcinoma
Reversed 0
HGVS NC_000003.11:g.178952084C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000032909.5, RCV000038675.2, RCV000417782.1, RCV000418438.1, RCV000420550.1, RCV000422744.1, RCV000423369.1, RCV000424877.1, RCV000425119.1, RCV000425540.1, RCV000425809.1, RCV000428005.1, RCV000430750.1, RCV000432323.1, RCV000432906.1, RCV000433635.1, RCV000435124.1, RCV000435399.1, RCV000436090.1, RCV000440398.1, RCV000441028.1, RCV000441716.1, RCV000441963.1, RCV000442782.1, RCV000444680.1,